Whole genome sequencing in clinical practice

Autor: Frederik Otzen Bagger, Line Borgwardt, Andreas Sand Jespersen, Anna Reimer Hansen, Birgitte Bertelsen, Miyako Kodama, Finn Cilius Nielsen

Publikováno v: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-16 (2024)

Abstract Whole genome sequencing (WGS) is becoming the preferred method for molecular genetic diagnosis of rare and unknown diseases and for identification of actionable cancer drivers. Compared to other molecular genetic methods, WGS captures most g

Externí odkaz: https://doaj.org/article/bdac98f0449e44859e7474c9ecbed628

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Bioinformatics in Germany: toward a national-level infrastructure

Autor: Andreas Tauch, Arwa Al-Dilaimi

Publikováno v: Briefings in Bioinformatics

The German Network for Bioinformatics Infrastructure (de.NBI) is a national initiative funded by the German Federal Ministry of Education and Research (BMBF). The mission of de.NBI is (i) to provide high-quality bioinformatics services to users in ba

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9616b5e7dd9ce8497e9dd5ece1d4732
http://europepmc.org/articles/PMC6433733

The future of metabolomics in ELIXIR

Autor: van Rijswijk, M, Beirnaert, C, Caron, C, Cascante, M, Dominguez, V, Dunn, WB, Ebbels, TMD, Giacomoni, F, Gonzalez-Beltran, A, Hankemeier, T, Haug, K, Izquierdo-Garcia, JL, Jimenez, RC, Jourdan, F, Kale, N, Klapa, MI, Kohlbacher, O, Koort, K, Kultima, K, Le Corguillé, G, Moreno, P, Moschonas, NK, Neumann, S, O'Donovan, C, Reczko, M, Rocca-Serra, P, Rosato, A, Salek, RM, Sansone, S-A, Satagopam, V, Schober, D, Shimmo, R, Spicer, RA, Spjuth, O, Thévenot, EA, Viant, MR, Weber, RJM, Willighagen, EL, Zanetti, G, Steinbeck, C

Publikováno v: F1000Research
F1000Research, 2017, 6 (Version 2), ⟨10.12688/f1000research.12342.2⟩
Repisalud
Instituto de Salud Carlos III (ISCIII)
F1000Research, Faculty of 1000, 2017, 6, ⟨10.12688/f1000research.12342.1⟩
F1000Research, 6, 1649
F1000Research, 6:1649. F1000 Research Ltd.
F1000Research, Faculty of 1000, 2017, 6 (Version 2), ⟨10.12688/f1000research.12342.2⟩
HAL Clermont Université
HAL-CEA
Hal-Diderot
Spiral-Imperial College Digital Repository
Hyper Article en Ligne
UnpayWall
ORCID
HAL-Inserm
HAL-UPEC / UPEM
HAL-Pasteur
Mémoires en Sciences de l'Information et de la Communication
HAL Descartes
F1000Research, 6

We are grateful to the proteomics community for sharing their experiences from their meeting “The future of proteomics in ELIXIR” on March 1–2 2017 in Tübingen, allowing us to build on this and organise our workshop as a one-day event.The meet

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90ffb84004904b403858cfc4bb146b8f
http://hdl.handle.net/2158/1101245

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